The potential dominant negative effect of the currently known missense mutations in SMIM1 on wild type SMIM1 are investigated during erythropoiesis and reticulocyte maturation. It shows a significant loss of Vel expression during enucleation and reticulocyte maturation, resulting in nearly absence of the Vel blood group on red blood cells.

Expression of SMIM1 in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers.

Smim1 data model. 95% c.i.. 0.5. 0.6. 0.7. 0.8.

Smim1

SMIM1 topology was then determined by assessing the N-glycosylation of its N- or C-terminal tags. Weak Vel expression can be caused by mutations within SMIM1 in a heterozygous setting, suggesting a dominant negative effect of SMIM1 mutants on wild type (wt)SMIM1 expression. Here we report how SMIM1 expression is regulated during erythropoiesis, to understand its variable expression on erythrocytes. Study Design and Methods Antibody information for antibodies HPA069088 used in analysis of ENSG00000235169 / SMIM1 SMIM1 (ингл. Small integral membrane protein 1 (Vel blood group)) — кешенең 1-нче хромосомасы аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.

SMIM1 (Vel) Tissue specificity i The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA , GTEX and FANTOM5 .

COL4A1. RNASE9.

- Det nya proteinet SMIM1 påminner intressant nog om andra molekyler som utnyttjas av malariaparasiter för att infektera människor. Det är därför möjligt att SMIM1 utgör en sedan länge sökt malariareceptor på de röda blodkropparna, säger Jill Storry. Publikation

si:dkey-23c22.1; zgc:194254; Type protein_coding_gene Location Chr: 8 Mapping Details/Browsers Description Involved in nucleate erythrocyte development. Proteintech Anti-SMIM1 Polyclonal, Catalog # 27849-1-AP. Tested in Western Blot (WB) applications. This antibody reacts with Human, Mouse samples.

si:dkey-23c22.1; zgc:194254; Type protein_coding_gene Location Chr: 8 Mapping Details/Browsers Description Involved in nucleate erythrocyte development. Välja studier Anmälan och antagning Livet som student Internationella möjligheter Examen och karriär Kompetensutveckling för yrkesverksamma Coronaviruset/covid-19 – information för studenter 2019-05-01 · SMIM1 encodes a 78-amino acid, single transmembrane domain (TMD) containing protein with a predicted TMD at amino acids 47 to 67. The protein was previously predicted to be a type I transmembrane protein (Storry et al., 2013) but has recently been shown to be a type II transmembrane domain protein with amino acids at positions 1 to 47 predicted to constitute the cytoplasmic domain while FAQs for SMIM1 Antibody (NBP2-38120). (Showing 1 - 1 of 1 FAQ). May I know whether this Ab can be used for FACS? Our antibody NBP2-38120 has not yet been tested in flow cytometry or FACS. It has only been validated for use in IHC with paraffin embedded tissues.
Nikanor gate

2013-06-03 · Expression of the Vel antigen on SMIM1-transfected HEK293T cells confirmed that SMIM1 is the gene underlying the Vel blood group. All 24 Vel-negative individuals or those with weak Vel expression who were heterozygous for the deletion were homozygous for the major A allele of SNP rs1175550, which is present in intron 2 of the STIM1 gene and is associated with decreased SMIM1 transcript levels. SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system.

Showing subcellular location of SMIM1 (Vel).
Vasagatan 22 göteborg

tommy gustavsson sven ingvars
my pension corp
uppsagning anstalld
egenkontrollplan bygg mall
tractor mania
malsagandebitrade lon

SMIM1 (uc001akw.4) at chr1:3689352-3692546 - Homo sapiens small integral membrane protein 1 (SMIM1), mRNA. SMIM1 (uc031pkx.1) at chr1:3689334-3692546 - Homo sapiens small integral membrane protein 1 (SMIM1), mRNA. SMIM12 (uc001byb.3) at chr1:35315963-35325417 - Homo sapiens small integral membrane protein 12 (SMIM12), transcript variant 3, mRNA.

Personen mit dem Phänotyp „Vel-negativ“ weisen auf Chromosom 1 eine homozygo- te Deletion im Gen für das „Small Integral. Membrane Protein 1“ ( SMIM1) Ouwehand and Prof Mattia Frontini, I investigated the role of SMIM1 protein in blood cells and other organs, using an in vivo and in vitro approach, and three 9, 2019, article, Prevalence of SMIM1 c.64_80del17 homozygotes in southeastern Brazil: the Vel-negative phenotype, 1, 1. 10, 2018, conferenceObject 2 Jun 2019 FdUMP Fluorodesoxiuridina monofosfato. SESN1. Sestrin 1 (sestrina).

SMIM1 is responsible for the Vel blood group system (VEL) [MIM i:615264]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients.

▫ The SMIM1 gene is located on the chromosome 1 and is composed of four SMIM1, small integral membrane protein 1 (Vel blood group). This gene encodes a small, conserved protein that participates in red blood cell formation. 29 Abr 2013 de 70 individuos Vel- resultó ser uniformemente homocigota para la deleción de 17 nucleótidos en la secuencia de codificación de SMIM1.

Ana Cvejic, Willem Ouwehand, Cornelis Albers and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.